ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1754_1755del (p.Asn585fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Istanbul Faculty of Medicine, Istanbul University RCV003493997 SCV004023386 likely pathogenic Alagille syndrome due to a JAG1 point mutation 2019-09-01 no assertion criteria provided clinical testing

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